研究动态
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散发性与遗传性儿童甲状腺髓样癌的肿瘤学特征。

Oncological features of sporadic vs. hereditary pediatric medullary thyroid cancer.

发表日期:2024 Jul 14
作者: Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
来源: MOLECULAR & CELLULAR PROTEOMICS

摘要:

目前还没有基因组数据可以毫无疑问地证明散发性甲状腺髓样癌 (MTC) 发生在婴儿期、儿童期和/或青春期。这是一项对连续接受颈部手术的 MTC 患者进行的回顾性比较研究。超过30年的三级中心。纳入了1252名MTC患者(337名遗传性和915名散发性),其中107名(8.5%)在18岁之前接受过手术。 107 名年龄分别为 14、16、17 和 17 岁的儿童患者中,只有 4 名(3.7%)患有散发性 MTC。这 4 名患者(其中 3 名已被转诊完成手术)显示出比 103 名遗传性 MTC 儿科患者大得多的甲状腺肿瘤(中位数为 20 毫米 vs. 1.5-5 毫米)。至于甲状腺外扩展和淋巴结转移,4 名散发性 MTC 患者与 37 名最高风险突变携带者(其中 31 名(84%)为新发疾病指标患者)相比,与 66 名高风险突变携带者更具可比性。风险、中风险或低风险 RET 突变(25-38% vs. 0-8%,解剖更多淋巴结转移后中位数为 9-9.5 vs. 0(中位数为 72-91.5 vs. 4.5-9) ) 节点)。散发性 MTC 在 14 岁以下很少发生,在婴儿期和儿童期罕见,在青春期很少见。在诊断时,它几乎与最高风险类别的遗传性 MTC 一样广泛转移,后者几乎总是像散发性 MTC 一样,表现为新发疾病。© 2024。作者获得 Springer Science Business Media 的独家许可, LLC,施普林格自然集团的一部分。
No genomic data have been put forth that prove beyond a shadow of doubt that sporadic medullary thyroid cancer (MTC) occurs in infancy, childhood, and/or adolescence.This was a retrospective comparative study of consecutive patients with MTC who had neck surgery at a tertiary center over a 30-year period.Included were 1252 patients with MTC (337 hereditary and 915 sporadic), of whom 107 (8.5%) were operated before the age of 18 yrs. Only 4 (3.7%) of the 107 pediatric patients, aged 14, 16, 17 and 17 years, had sporadic MTC. These 4 patients, 3 of whom had been referred for completion surgery, revealed much larger thyroid tumors (medians of 20 mm vs. 1.5-5 mm) than the 103 pediatric patients with hereditary MTC. As for extrathyroid extension and nodal metastases, the 4 patients with sporadic MTC were more comparable to the 37 carriers of highest-risk mutations, 31 (84%) of whom were index patients with de novo disease, than to the 66 carriers of high-risk, intermediate-risk, or low-risk RET mutations (25-38% vs. 0-8%, and medians of 9-9.5 vs. 0 node metastases after dissection of more (medians of 72-91.5 vs. 4.5-9) nodes).Sporadic MTC, arising rarely, if ever, below the age of 14 years, is exceptional in infancy and childhood, and infrequent in adolescence. At diagnosis, it is almost as widely metastatic as hereditary MTC of the highest-risk category which almost always, like sporadic MTC, presents as de novo disease.© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.